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Outcome of congenital adrenal hyperplasia
Pediatric Surgery International, 1997In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, affected girls are born with ambiguous genitalia due to increased secretion of androgens in utero by the defective adrenal gland. Even though it is generally accepted that there are differences between male and female brain development, determining factors have been difficult to ...
M. Bullinger, U. Kuhnle
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Congenital Adrenal Hyperplasias
Endocrinology and Metabolism Clinics of North America, 1991The congenital adrenal hyperplasias (CAH) are a very common group of genetic disorders of steroid hormone synthesis. The genes encoding each of the steroid biosynthetic enzymes have now been cloned, and the mutations in these genes that cause the various forms of CAH are being determined. The emerging picture is substantially different from traditional
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Genetics of Congenital Adrenal Hyperplasia
Endocrinology and Metabolism Clinics of North America, 2017Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with more than 95% of all cases caused by 21-hydroxylase deficiency.
Fady Hannah-Shmouni +2 more
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Clinical Endocrinology, 2018
Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Georgina L. Chrisp +8 more
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Episodes of acute adrenal insufficiency (AI)/adrenal crises (AC) are a serious consequence of congenital adrenal hyperplasia (CAH). This study aimed to assess morbidity from acute illness in CAH and identify factors associated with use of IV ...
Georgina L. Chrisp +8 more
semanticscholar +1 more source
Congenital Adrenal Hyperplasia
2019Congenital adrenal hyperplasia (CAH) is a group of seven autosomal recessively inherited disorders of various enzymes participating in adrenal steroid hormone synthesis. Patients present with various symptoms depending on the nature and severity of the enzymatic block. More than 95% of all CAH patients suffer from 21-hydroxylase deficiency. The genetic
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Congenital Adrenal Hyperplasia
Pediatrics in ReviewAbstractWe describe congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which is the most common primary adrenal insufficiency in children and adolescents. In this comprehensive review of CAH, we describe presentations at different life stages depending on disease severity.
Nicole R, Fraga +2 more
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Androgens in Congenital Adrenal Hyperplasia.
Frontiers of Hormone Research, 2019Congenital Adrenal Hyperplasias (CAH) are genetic diseases transmitted in an autosomal recessive way and these diseases affect many aspects of human health.
D. Pignatelli, S. Pereira, R. Pasquali
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Nonclassic congenital adrenal hyperplasia
Current Opinion in Endocrinology, Diabetes & Obesity, 2012Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess.
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Congenital Adrenal Hyperplasia [PDF]
Biochemical Society Transactions, 1968 openaire +4 more sources